Clinical genomics: from a truly personal genome viewpoint

Hum Genet. 2016 Jun;135(6):591-601. doi: 10.1007/s00439-016-1682-6. Epub 2016 May 25.


The path to Clinical Genomics is punctuated by our understanding of what types of DNA structural and sequence variation contribute to disease, the many technical challenges to detect such variation genome-wide, and the initial struggles to interpret personal genome variation in the context of disease. This review describes one perspective of the development of clinical genomics; whereas the experimental challenges, and hurdles to overcoming them, might be deemed readily apparent, the non-technical issues for clinical implementation may be less obvious. Some of these latter challenges, including: (1) informed consent, (2) privacy, (3) what constitutes potentially pathogenic variation contributing to disease, (4) disease penetrance in populations, and (5) the genetic architecture of disease, and the struggles sometimes faced for solutions, are highlighted using illustrative examples.

Publication types

  • Review
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genetic Diseases, Inborn*
  • Genetic Variation / genetics
  • Genome, Human / genetics*
  • Genomics*
  • Humans
  • Informed Consent
  • Precision Medicine / trends*
  • Privacy
  • Sequence Analysis, DNA